# Friedhelm Hildebrandt

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/friedhelm-hildebrandt/

## Facts

| Field | Value |
| --- | --- |
| Citations | 38,478 |
| Field | Genetic and Kidney Cyst Diseases |
| h-index | 108 |
| i10-index | 315 |
| Last Known Institution | Boston Children's Hospital |
| OpenAlex ID | https://openalex.org/A5079173500 |
| ORCID iD | https://orcid.org/0000-0002-7130-0030 |
| Works | 588 |

## Researcher papers

Showing 12 of 31.

- [Ciliopathies](https://scholariq.org/papers/ciliopathies/)
- [A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome](https://scholariq.org/papers/a-single-gene-cause-in-29-5-of-cases-of-steroid-resistant-nephrotic-syndrome/)
- [Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination](https://scholariq.org/papers/mutations-in-invs-encoding-inversin-cause-nephronophthisis-type-2-linking-renal/)
- [The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4](https://scholariq.org/papers/the-centrosomal-protein-nephrocystin-6-is-mutated-in-joubert-syndrome-and/)
- [Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible](https://scholariq.org/papers/positional-cloning-uncovers-mutations-in-plce1-responsible-for-a-nephrotic/)
- [Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure](https://scholariq.org/papers/mutation-of-bsnd-causes-bartter-syndrome-with-sensorineural-deafness-and-kidney/)
- [The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome](https://scholariq.org/papers/the-ciliary-gene-rpgrip1l-is-mutated-in-cerebello-oculo-renal-syndrome-joubert/)
- [Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin](https://scholariq.org/papers/nephrocystin-5-a-ciliary-iq-domain-protein-is-mutated-in-senior-loken-syndrome/)
- [COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness](https://scholariq.org/papers/coq6-mutations-in-human-patients-produce-nephrotic-syndrome-with-sensorineural/)
- [Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling](https://scholariq.org/papers/exome-capture-reveals-znf423-and-cep164-mutations-linking-renal-ciliopathies-to/)
- [In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse](https://scholariq.org/papers/in-frame-deletion-in-a-novel-centrosomal-ciliary-protein-cep290-nphp6-perturbs/)
- [TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum](https://scholariq.org/papers/ttc21b-contributes-both-causal-and-modifying-alleles-across-the-ciliopathy/)

## Researcher topics

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)
- [Renal and related cancers](https://scholariq.org/topics/renal-and-related-cancers/)
- [Renal Diseases and Glomerulopathies](https://scholariq.org/topics/renal-diseases-and-glomerulopathies/)
- [Biomedical Research and Pathophysiology](https://scholariq.org/topics/biomedical-research-and-pathophysiology/)
- [Ion Transport and Channel Regulation](https://scholariq.org/topics/ion-transport-and-channel-regulation/)

## Researcher university

- [Boston Children's Hospital](https://scholariq.org/institutions/boston-children-s-hospital/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.